Observational studyEndocrine2018
Natural history and clinical characteristics of 50 patients with Wolfram syndrome.
Observational study in Endocrine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 30 citations in OpenAlex.
- Exploratory Associations Between Multimodal MRI-Derived Features and Neurological Symptoms in Wolfram Syndrome: A Spanish Cohort Pilot Study.Diagnostics (Basel, Switzerland) · 2026Article
- Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.Andrology · 2026Article
- Circadian Rhythm and Psychiatric Features in Wolfram Syndrome: Toward Chrono Diagnosis and Chronotherapy.Diagnostics (Basel, Switzerland) · 2025Article
- Gonadal Dysfunction in Wolfram Syndrome: A Prospective Study.Diagnostics (Basel, Switzerland) · 2025Article
- Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects.Frontiers in medicine · 2025Article
- Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center.Archives of endocrinology and metabolism · 2024Article
- Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report.Journal of medical case reports · 2023Article
- Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis.Healthcare (Basel, Switzerland) · 2023Article
- Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?Frontiers in endocrinology · 2023Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Article
- Genetic Spectrum of Neonatal Diabetes.Balkan journal of medical genetics : BJMG · 2020Article
- Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure.Endocrine · 2020Article
- OBSESSIVE COMPULSIVE DISORDER AND CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY IN WOLFRAM SYNDROME: NEW ASPECTS AND A NOVEL WFS1 MUTATION.Acta endocrinologica (Bucharest, Romania : 2005)Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe clinical characteristics of diabetes mellitus (DM) in a group of patients with Wolfram Syndrome (WS).
methodsDescriptive, cross-sectional observational design. The sample consisted of 50 patients diagnosed with WS. Clinical criteria contributing to WS diagnosis were analyzed: diabetes mellitus (DM), optic nerve atrophy (OA), sensorineural deafness, urological and neurological dysfunction, among others. These parameters were assessed according to their presence/absence, age of onset, and various clinical-analytical parameters.
resultsAll the patients studied presented DM and OA, with a mean age of onset of 5.4 ± .9 (1-14) years and 9 ± .9 (1-16) years, respectively. The remaining criteria were present with a variable frequency: 77% had diabetes insipidus, 66.7% auditory alterations, 77.8% neurogenic bladder, 61.1% neurological involvement, and 27.8% hypogonadism. A 16.7% of the patients had positive albuminuria (urinary albumin/creatinine ratio > 30 mg/g) and 72.2% had hyporreflexia. There were no significant differences in the age of diagnosis nor of the presence of different pathologies according to sex.
conclusionsThe early presence of a non-autoimmune insulin dependent DM, should alert us of an "infrequent" diabetes syndrome. Wolfram's presumptive diagnosis could be established if juvenile-onset DM occurs concomitantly with OA, and this visual impairment is not attributable to diabetic retinopathy. Despite the long period of evolution of DM and altered values of HbA1c, the prevalence of microvascular complications in the sample are low.
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